Incidental Mutation 'R7167:Stag1'
ID |
557995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stag1
|
Ensembl Gene |
ENSMUSG00000037286 |
Gene Name |
STAG1 cohesin complex component |
Synonyms |
SA-1, Scc3 |
MMRRC Submission |
045228-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7167 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 100827942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 990
(N990K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116205
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000155108]
|
AlphaFold |
Q9D3E6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041418
AA Change: N990K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040724 Gene: ENSMUSG00000037286 AA Change: N990K
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
Pfam:STAG
|
157 |
276 |
1.5e-50 |
PFAM |
SCOP:d1qbkb_
|
279 |
850 |
4e-5 |
SMART |
low complexity region
|
1062 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1107 |
1120 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123302
|
SMART Domains |
Protein: ENSMUSP00000117879 Gene: ENSMUSG00000037286
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
Pfam:STAG
|
157 |
276 |
2.9e-51 |
PFAM |
low complexity region
|
303 |
315 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129269
AA Change: N990K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000116205 Gene: ENSMUSG00000037286 AA Change: N990K
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
Pfam:STAG
|
160 |
274 |
3.8e-41 |
PFAM |
SCOP:d1qbkb_
|
279 |
850 |
3e-5 |
SMART |
low complexity region
|
1062 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1107 |
1120 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000115460 Gene: ENSMUSG00000037286 AA Change: N159K
Domain | Start | End | E-Value | Type |
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120974 Gene: ENSMUSG00000037286 AA Change: N600K
Domain | Start | End | E-Value | Type |
low complexity region
|
673 |
692 |
N/A |
INTRINSIC |
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155108
|
SMART Domains |
Protein: ENSMUSP00000118952 Gene: ENSMUSG00000037286
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0697 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
94% (65/69) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008] PHENOTYPE: Mouse embryos homozygous for a null mutation show developmental delay and die before birth. Heterozygous animals have shorter lifespan and earlier onset of tumourigenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,624,930 (GRCm39) |
V436A |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,224,251 (GRCm39) |
T111A |
possibly damaging |
Het |
Acsbg2 |
T |
A |
17: 57,164,000 (GRCm39) |
D203V |
probably benign |
Het |
Alpk2 |
G |
T |
18: 65,440,049 (GRCm39) |
T448K |
probably benign |
Het |
Arhgef2 |
A |
G |
3: 88,551,179 (GRCm39) |
N780S |
possibly damaging |
Het |
Atxn2l |
T |
C |
7: 126,098,394 (GRCm39) |
N252S |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,568,841 (GRCm39) |
L163Q |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,803,545 (GRCm39) |
R100G |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,898,337 (GRCm39) |
I79T |
unknown |
Het |
Csmd1 |
A |
G |
8: 15,976,524 (GRCm39) |
V2898A |
probably benign |
Het |
Cux1 |
G |
A |
5: 136,338,895 (GRCm39) |
|
probably null |
Het |
Cyp2u1 |
A |
G |
3: 131,096,773 (GRCm39) |
S2P |
probably benign |
Het |
Daam1 |
C |
A |
12: 72,035,678 (GRCm39) |
H958N |
probably damaging |
Het |
Dnah7a |
C |
T |
1: 53,542,935 (GRCm39) |
V2412I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,108,133 (GRCm39) |
R2G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,175,827 (GRCm39) |
T1629A |
possibly damaging |
Het |
Ftl1 |
T |
A |
7: 45,109,202 (GRCm39) |
|
probably benign |
Het |
Fut8 |
T |
C |
12: 77,495,406 (GRCm39) |
V332A |
possibly damaging |
Het |
Gm28363 |
T |
C |
1: 117,655,119 (GRCm39) |
S113P |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,052 (GRCm39) |
V104E |
probably damaging |
Het |
Ifih1 |
A |
T |
2: 62,429,240 (GRCm39) |
N899K |
probably benign |
Het |
Krt75 |
A |
G |
15: 101,476,750 (GRCm39) |
S380P |
possibly damaging |
Het |
Meiob |
T |
G |
17: 25,055,419 (GRCm39) |
F409V |
probably damaging |
Het |
Mkrn2os |
A |
T |
6: 115,562,474 (GRCm39) |
I163N |
probably damaging |
Het |
Nanos1 |
G |
T |
19: 60,745,046 (GRCm39) |
G115W |
probably damaging |
Het |
Naprt |
C |
T |
15: 75,764,461 (GRCm39) |
A276T |
probably damaging |
Het |
Oas1e |
G |
T |
5: 120,933,487 (GRCm39) |
T26N |
probably benign |
Het |
Oog2 |
T |
G |
4: 143,921,745 (GRCm39) |
D218E |
probably benign |
Het |
Optn |
T |
C |
2: 5,047,294 (GRCm39) |
N207S |
probably benign |
Het |
Or13a20 |
T |
A |
7: 140,232,466 (GRCm39) |
C191* |
probably null |
Het |
Or1l8 |
T |
C |
2: 36,817,533 (GRCm39) |
I198V |
probably benign |
Het |
Or4g16 |
T |
C |
2: 111,136,793 (GRCm39) |
M81T |
probably benign |
Het |
Or4p18 |
A |
G |
2: 88,232,552 (GRCm39) |
V242A |
possibly damaging |
Het |
Or6c63-ps1 |
T |
G |
10: 128,899,141 (GRCm39) |
Q245P |
probably damaging |
Het |
Or6c66b |
T |
C |
10: 129,376,607 (GRCm39) |
L67P |
possibly damaging |
Het |
Or8g4 |
T |
C |
9: 39,661,865 (GRCm39) |
F61S |
probably damaging |
Het |
Oxnad1 |
G |
T |
14: 31,822,976 (GRCm39) |
E236* |
probably null |
Het |
Pcdha3 |
G |
A |
18: 37,080,046 (GRCm39) |
A263T |
probably damaging |
Het |
Pex13 |
A |
T |
11: 23,605,472 (GRCm39) |
W253R |
possibly damaging |
Het |
Pip5k1b |
T |
A |
19: 24,374,433 (GRCm39) |
E49D |
probably benign |
Het |
Plau |
C |
A |
14: 20,889,518 (GRCm39) |
F194L |
possibly damaging |
Het |
Ppm1n |
A |
G |
7: 19,013,666 (GRCm39) |
L95S |
probably damaging |
Het |
Pramel40 |
G |
A |
5: 94,464,984 (GRCm39) |
A457T |
possibly damaging |
Het |
Radil |
G |
T |
5: 142,471,260 (GRCm39) |
|
probably null |
Het |
Ralgapa2 |
C |
T |
2: 146,190,374 (GRCm39) |
M1266I |
probably benign |
Het |
Reln |
A |
T |
5: 22,147,618 (GRCm39) |
L2444Q |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,300,473 (GRCm39) |
V260A |
probably benign |
Het |
Rnase2b |
T |
A |
14: 51,400,222 (GRCm39) |
V101E |
probably damaging |
Het |
Rtp3 |
T |
A |
9: 110,815,772 (GRCm39) |
T198S |
probably benign |
Het |
Shisal2b |
A |
G |
13: 105,000,166 (GRCm39) |
V19A |
probably damaging |
Het |
Smad3 |
T |
A |
9: 63,573,435 (GRCm39) |
D201V |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spata7 |
T |
G |
12: 98,630,555 (GRCm39) |
F371C |
probably damaging |
Het |
Tbx18 |
C |
T |
9: 87,589,883 (GRCm39) |
A352T |
probably damaging |
Het |
Thada |
C |
T |
17: 84,538,391 (GRCm39) |
R1539Q |
probably benign |
Het |
Thrap3 |
A |
C |
4: 126,078,920 (GRCm39) |
|
probably benign |
Het |
Tnks |
G |
A |
8: 35,316,458 (GRCm39) |
T887M |
probably damaging |
Het |
Trap1 |
A |
C |
16: 3,870,792 (GRCm39) |
V393G |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
Trrap |
G |
T |
5: 144,776,424 (GRCm39) |
G3007C |
probably benign |
Het |
U2surp |
A |
T |
9: 95,363,726 (GRCm39) |
N611K |
probably damaging |
Het |
Usp12 |
A |
G |
5: 146,705,745 (GRCm39) |
|
probably null |
Het |
Vmn1r200 |
A |
G |
13: 22,579,487 (GRCm39) |
T97A |
possibly damaging |
Het |
Vmn2r110 |
C |
T |
17: 20,794,441 (GRCm39) |
V743I |
probably benign |
Het |
Vps50 |
C |
T |
6: 3,600,256 (GRCm39) |
T905M |
probably damaging |
Het |
Wdr48 |
T |
A |
9: 119,736,855 (GRCm39) |
|
probably null |
Het |
Zfp446 |
C |
T |
7: 12,712,049 (GRCm39) |
|
probably benign |
Het |
Zfr |
T |
C |
15: 12,181,015 (GRCm39) |
S1012P |
probably benign |
Het |
|
Other mutations in Stag1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00649:Stag1
|
APN |
9 |
100,658,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01010:Stag1
|
APN |
9 |
100,827,986 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01012:Stag1
|
APN |
9 |
100,737,912 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01025:Stag1
|
APN |
9 |
100,833,710 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01307:Stag1
|
APN |
9 |
100,833,841 (GRCm39) |
intron |
probably benign |
|
IGL02149:Stag1
|
APN |
9 |
100,769,442 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02608:Stag1
|
APN |
9 |
100,639,822 (GRCm39) |
missense |
probably null |
0.99 |
IGL03008:Stag1
|
APN |
9 |
100,658,844 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03210:Stag1
|
APN |
9 |
100,727,129 (GRCm39) |
missense |
possibly damaging |
0.63 |
eto_o
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Stag1
|
UTSW |
9 |
100,824,769 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0070:Stag1
|
UTSW |
9 |
100,838,461 (GRCm39) |
missense |
probably null |
1.00 |
R0070:Stag1
|
UTSW |
9 |
100,838,461 (GRCm39) |
missense |
probably null |
1.00 |
R0349:Stag1
|
UTSW |
9 |
100,658,837 (GRCm39) |
missense |
probably damaging |
0.98 |
R0479:Stag1
|
UTSW |
9 |
100,810,144 (GRCm39) |
missense |
probably benign |
0.00 |
R0531:Stag1
|
UTSW |
9 |
100,836,300 (GRCm39) |
makesense |
probably null |
|
R0962:Stag1
|
UTSW |
9 |
100,678,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R0976:Stag1
|
UTSW |
9 |
100,812,069 (GRCm39) |
critical splice donor site |
probably null |
|
R0976:Stag1
|
UTSW |
9 |
100,658,877 (GRCm39) |
missense |
probably damaging |
0.98 |
R1170:Stag1
|
UTSW |
9 |
100,770,506 (GRCm39) |
intron |
probably benign |
|
R1499:Stag1
|
UTSW |
9 |
100,769,426 (GRCm39) |
intron |
probably benign |
|
R1499:Stag1
|
UTSW |
9 |
100,737,885 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1644:Stag1
|
UTSW |
9 |
100,762,953 (GRCm39) |
intron |
probably benign |
|
R1747:Stag1
|
UTSW |
9 |
100,770,353 (GRCm39) |
missense |
probably benign |
|
R1799:Stag1
|
UTSW |
9 |
100,835,515 (GRCm39) |
splice site |
probably null |
|
R1807:Stag1
|
UTSW |
9 |
100,790,719 (GRCm39) |
missense |
probably benign |
0.34 |
R1978:Stag1
|
UTSW |
9 |
100,770,139 (GRCm39) |
missense |
probably benign |
0.03 |
R2029:Stag1
|
UTSW |
9 |
100,668,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R2161:Stag1
|
UTSW |
9 |
100,771,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R2300:Stag1
|
UTSW |
9 |
100,594,553 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2327:Stag1
|
UTSW |
9 |
100,668,666 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2426:Stag1
|
UTSW |
9 |
100,727,169 (GRCm39) |
critical splice donor site |
probably null |
|
R2448:Stag1
|
UTSW |
9 |
100,770,462 (GRCm39) |
missense |
probably benign |
0.42 |
R2504:Stag1
|
UTSW |
9 |
100,748,263 (GRCm39) |
missense |
probably damaging |
0.99 |
R3713:Stag1
|
UTSW |
9 |
100,771,671 (GRCm39) |
missense |
probably benign |
0.01 |
R3835:Stag1
|
UTSW |
9 |
100,620,035 (GRCm39) |
missense |
probably damaging |
0.97 |
R3862:Stag1
|
UTSW |
9 |
100,826,838 (GRCm39) |
missense |
probably benign |
0.02 |
R4398:Stag1
|
UTSW |
9 |
100,838,659 (GRCm39) |
utr 3 prime |
probably benign |
|
R4568:Stag1
|
UTSW |
9 |
100,730,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R4651:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R4653:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R4675:Stag1
|
UTSW |
9 |
100,730,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Stag1
|
UTSW |
9 |
100,620,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R4924:Stag1
|
UTSW |
9 |
100,678,808 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5018:Stag1
|
UTSW |
9 |
100,833,672 (GRCm39) |
missense |
probably benign |
0.00 |
R5435:Stag1
|
UTSW |
9 |
100,835,603 (GRCm39) |
missense |
probably benign |
0.03 |
R5460:Stag1
|
UTSW |
9 |
100,838,506 (GRCm39) |
splice site |
probably null |
|
R5805:Stag1
|
UTSW |
9 |
100,678,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R6127:Stag1
|
UTSW |
9 |
100,833,750 (GRCm39) |
missense |
probably benign |
0.05 |
R6313:Stag1
|
UTSW |
9 |
100,639,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R6597:Stag1
|
UTSW |
9 |
100,769,473 (GRCm39) |
missense |
probably benign |
0.01 |
R6807:Stag1
|
UTSW |
9 |
100,826,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7099:Stag1
|
UTSW |
9 |
100,826,879 (GRCm39) |
missense |
probably benign |
0.02 |
R7395:Stag1
|
UTSW |
9 |
100,678,781 (GRCm39) |
missense |
probably damaging |
0.99 |
R7504:Stag1
|
UTSW |
9 |
100,770,381 (GRCm39) |
missense |
probably benign |
0.09 |
R7663:Stag1
|
UTSW |
9 |
100,620,191 (GRCm39) |
missense |
probably damaging |
0.98 |
R7769:Stag1
|
UTSW |
9 |
100,826,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8245:Stag1
|
UTSW |
9 |
100,811,946 (GRCm39) |
missense |
probably benign |
0.01 |
R8343:Stag1
|
UTSW |
9 |
100,639,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8473:Stag1
|
UTSW |
9 |
100,762,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R8709:Stag1
|
UTSW |
9 |
100,772,975 (GRCm39) |
intron |
probably benign |
|
R8925:Stag1
|
UTSW |
9 |
100,587,298 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8927:Stag1
|
UTSW |
9 |
100,587,298 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8951:Stag1
|
UTSW |
9 |
100,762,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R9138:Stag1
|
UTSW |
9 |
100,829,335 (GRCm39) |
missense |
probably benign |
0.01 |
R9233:Stag1
|
UTSW |
9 |
100,812,024 (GRCm39) |
missense |
probably benign |
0.00 |
R9246:Stag1
|
UTSW |
9 |
100,770,329 (GRCm39) |
missense |
probably benign |
0.00 |
R9419:Stag1
|
UTSW |
9 |
100,811,967 (GRCm39) |
missense |
probably benign |
|
R9442:Stag1
|
UTSW |
9 |
100,836,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Stag1
|
UTSW |
9 |
100,810,151 (GRCm39) |
missense |
probably benign |
0.05 |
R9740:Stag1
|
UTSW |
9 |
100,587,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAGGATTTGTATTACCCCTG -3'
(R):5'- ATAGCTTCCAGGTCAAACCAAG -3'
Sequencing Primer
(F):5'- TACCCCTGAAAAATACATTGGGG -3'
(R):5'- CCAGGTCAAACCAAGTTTTTATTAC -3'
|
Posted On |
2019-06-26 |